Single nucleotide polymorphism (SNP) analysis demonstrates a significant association of tumour necrosis factor-alpha (TNFA) with primary immune thrombocytopenia among Caucasian adults
HEMATOLOGY
Authors: Sarpatwari, Ameet; Bussel, James B.; Ahmed, Momin; Erqou, Sebhat; Semple, John W.; Newland, Adrian C.; Bennett, Dimitri; Pharoah, Paul; Provan, Drew
Abstract
T-helper 1 polarization in patients with primary immune thrombocytopenia (ITP) is well documented. However, the genetic contribution to this imbalance remains unclear. To address this question, we selected six candidate single nucleotide polymorphisms within cytokine or cytokine receptor genes for association testing among Caucasian adults. Patients from the United Kingdom Adult ITP Registry were gender-matched (1 : 3) with healthy controls from the Wellcome Trust Case Control Consortium. Variants IL10-2819 c > t, TNFA -308 g. a, TGFB1 -509 c > t, IL1A -889 c > t, IL10 -592 c > t, and IL4R q576r were measured in cases and retrieved for controls from the European Genome-phenome Archive. Associations were evaluated using logistic regression models. In total, 206 patients with primary ITP were matched with 618 controls. A significant per allele odds ratio of 1.34 (95% confidence interval, 1.03-1.75; P=0.03) was observed for TNFA -308 g > a, implicating an increased disease susceptibility among Caucasian carriers of the rare allele.
The relationship between ApoE, TNFA, IL1a, IL1b and IL12b genes and HIV-1-associated dementia
HIV MEDICINE
Authors: Pemberton, L. A.; Stone, E.; Price, P.; Van Bockxmeer, F.; Brew, B. J.
Abstract
Objectives Host genetic factors implicated in AIDS dementia complex (ADC) were studied. Methods DNA from ADC patients (n = 56), unselected HIV-seropositive patients (n = 112, 171, 185 and 204) and HIV-seronegative controls (n = 204, 60, 60, 96 and 624) were typed for polymorphic loci in genes encoding tumour necrosis factor (TNF)-alpha, interleukin (IL)-1 alpha, IL-1 beta, IL-12 and Apolipoprotein E (ApoE). Diagnosis of ADC was based on neurological symptoms, signs and neuroimaging findings with other causes of dementia excluded. Patients selected had ADC stage >= 1 and CD4 counts of < 500 cells/mu L. Results Allele 2 of TNFA-308 was more common in ADC patients compared to HIV-positive or HIV-negative controls (P = 0.005, 0.024). No other differences between ADC patients and control groups were significant. Meta-analyses confirmed these results. Conclusions This study suggests that TNFA-308 allele 2 or an allele in linkage disequilibrium with this locus influences ADC.
COA
Publication 
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